Developmental BiologyDisease Models & MechanismsPeer-reviewed
Perturbation of the titin/MURF1 signaling complex is associated with hypertrophic cardiomyopathy in a fish model and in human patients.
Yuta Higashikuse, Nishant Mittal, Takuro Arimura…·Shinji Makino
The paper identifies mutations in the titin Ig domain associated with hypertrophic cardiomyopathy in both a fish model and human patients, showing increased titin-MURF1 binding and degradation.